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- source_evidence_literature type ECO_0000212 NP343228.RAjJQaEfY-krm8MRjogc2-ZB5pwBbXO_iRLoOvb082HsE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP343228.RAjJQaEfY-krm8MRjogc2-ZB5pwBbXO_iRLoOvb082HsE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP343228.RAjJQaEfY-krm8MRjogc2-ZB5pwBbXO_iRLoOvb082HsE130_provenance.
- NP343228.RAjJQaEfY-krm8MRjogc2-ZB5pwBbXO_iRLoOvb082HsE130_assertion description "[We hypothesize that at least two modifications of OPA1 may lead to dominant optic atrophy, that is alteration in GTPase activity and loss of the last seven C-terminal amino acids that putatively interact with other proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP343228.RAjJQaEfY-krm8MRjogc2-ZB5pwBbXO_iRLoOvb082HsE130_provenance.
- NP343228.RAjJQaEfY-krm8MRjogc2-ZB5pwBbXO_iRLoOvb082HsE130_assertion evidence source_evidence_literature NP343228.RAjJQaEfY-krm8MRjogc2-ZB5pwBbXO_iRLoOvb082HsE130_provenance.
- NP343228.RAjJQaEfY-krm8MRjogc2-ZB5pwBbXO_iRLoOvb082HsE130_assertion SIO_000772 11810270 NP343228.RAjJQaEfY-krm8MRjogc2-ZB5pwBbXO_iRLoOvb082HsE130_provenance.
- NP343228.RAjJQaEfY-krm8MRjogc2-ZB5pwBbXO_iRLoOvb082HsE130_assertion wasDerivedFrom befree-2016 NP343228.RAjJQaEfY-krm8MRjogc2-ZB5pwBbXO_iRLoOvb082HsE130_provenance.
- NP343228.RAjJQaEfY-krm8MRjogc2-ZB5pwBbXO_iRLoOvb082HsE130_assertion wasGeneratedBy ECO_0000203 NP343228.RAjJQaEfY-krm8MRjogc2-ZB5pwBbXO_iRLoOvb082HsE130_provenance.
- befree-2016 importedOn "2016-02-19" NP343228.RAjJQaEfY-krm8MRjogc2-ZB5pwBbXO_iRLoOvb082HsE130_provenance.